Van Diggelen OP - Search Results

1

Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome).

Zafeiriou D, Auggoustidou-Savvopoulou PA, Papadopoulou FA, Gombakis NP, Katzos GS, Kontopoulos EE, Van Diggelen OP. Zafeiriou D, et al. Among authors: van diggelen op. Eur J Paediatr Neurol. 1998;2(3):153-6. doi: 10.1016/s1090-3798(98)80031-7. Eur J Paediatr Neurol. 1998. PMID: 10726837 No abstract available.

2

Type I sialidosis: a clinical, biochemical and neuroradiological study.

Palmeri S, Villanova M, Malandrini A, van Diggelen OP, Huijmans JG, Ceuterick C, Rufa A, DeFalco D, Ciacci G, Martin JJ, Guazzi G. Palmeri S, et al. Among authors: van diggelen op. Eur Neurol. 2000;43(2):88-94. doi: 10.1159/000008141. Eur Neurol. 2000. PMID: 10686466

3

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen OP. Kälviäinen R, et al. Among authors: van diggelen op. Eur J Neurol. 2007 Apr;14(4):369-72. doi: 10.1111/j.1468-1331.2007.01668.x. Eur J Neurol. 2007. PMID: 17388982

4

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

Van Diggelen OP, Keulemans JL, Kleijer WJ, Thobois S, Tilikete C, Voznyi YV. Van Diggelen OP, et al. Eur J Paediatr Neurol. 2001;5 Suppl A:189-92. doi: 10.1053/ejpn.2000.0460. Eur J Paediatr Neurol. 2001. PMID: 11588995

5

New mutations in the neuronal ceroid lipofuscinosis genes.

Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Järvelä I, Taschner PE. Mole SE, et al. Among authors: van diggelen op. Eur J Paediatr Neurol. 2001;5 Suppl A:7-10. doi: 10.1053/ejpn.2000.0427. Eur J Paediatr Neurol. 2001. PMID: 11589012 Review.

6

Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathy.

Artan R, van Diggelen OP, Huijmans JG. Artan R, et al. Among authors: van diggelen op. J Inherit Metab Dis. 1998 Jun;21(4):437-8. doi: 10.1023/a:1005331414257. J Inherit Metab Dis. 1998. PMID: 9700608 No abstract available.

7

Pitfalls in the diagnosis of multiple sulfatase deficiency.

Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Mancini GM, et al. Among authors: van diggelen op. Neuropediatrics. 2001 Feb;32(1):38-40. doi: 10.1055/s-2001-12213. Neuropediatrics. 2001. PMID: 11315200

8

Clinical, biochemical and molecular findings in a two-generation Morquio A family.

Tylki-Szymańska A, Czartoryska B, Bunge S, van Diggelen OP, Kleijer WJ, Poorthuis BJ, Huijmans JG, Górska D. Tylki-Szymańska A, et al. Among authors: van diggelen op. Clin Genet. 1998 May;53(5):369-74. doi: 10.1111/j.1399-0004.1998.tb02747.x. Clin Genet. 1998. PMID: 9660054

9

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.

Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP. Mancini GM, et al. Among authors: van diggelen op. Dermatology. 1999;198(1):18-25. doi: 10.1159/000018058. Dermatology. 1999. PMID: 10026396

10

First-trimester diagnosis of Morquio disease type A.

Kleijer WJ, Geilen GC, Garritsen V, Huijmans JG, Los FJ, Voznyi YV, van Diggelen OP. Kleijer WJ, et al. Among authors: van diggelen op. Prenat Diagn. 2000 Mar;20(3):183-5. Prenat Diagn. 2000. PMID: 10719317

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

155 results

Search Page